Search Results - "de Torres, M L"

Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome by Fernández, L, Lapunzina, P, Arjona, D, López Pajares, I, García-Guereta, L, Elorza, D, Burgueros, M, De Torres, ML, Mori, MA, Palomares, M, García-Alix, A, Delicado, A

“…The 22q11.2 deletion syndrome is commonly diagnosed using fluorescence in situ hybridization (FISH) with commercial probes. The chromosomal breakpoints and…”
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The Potential of the SMART Learning Framework to Design and Implement Geospatial Curricula in the Secondary Classroom by Buzo-Sánchez, I. J., Mínguez, C., De Lázaro-Torres, M. L.

“…This study investigates the didactic educational use of Web GIS in the framework of SMART learning and its potential to help students' practice geospatial…”
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Expert perspectives on GIS use in Spanish geographic education by Buzo-Sánchez, I.J., Mínguez, C., De Lázaro-Torres, M.L.

“…The emergence of new technological tools for territorial analysis, such as cloud-based GIS, or GIS viewers, compels us to closely examine its usefulness in…”
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Euchromatic variant 16p+. Implications in prenatal diagnosis by López Pajares, I., Villa, O., Salido, M., Mori, M. A., Gonzalez, A., Lapunzina, P., De Torres, M. L., Vallcorba, I., Palomares, M., Fernández, L., Delicado, A.

“…Background Euchromatic imbalances at the cytogenetic level are usually associated with phenotypic consequences. Among the exceptions are euchromatic variants…”
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Tetrasomy 8p: Discordance of amniotic fluid and blood karyotypes by López‐Pajares, I., Delicado, A., Lapunzina, P., Mori, M.A., de Torres, M.L., Aso, S., Garcia Sanchez, P.

“…We describe a girl with congenital heart defect (ventricular septal defect), facial, ear and bone anomalies, agenesis of corpus callosum and conventional…”
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Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counselling by Lapunzina, P., Delicado, A., de Torres, M. L., Mori, M. A., Pérez-Pacheco, R. F., López Pajares, I.

“…We report on two abortuses with hydrocephalus due to congenital stenosis of the aqueduct of Silvius. The occurrence of this disorder in two siblings (a male…”
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Knowledge and attitudes of teachers on children with asthma by Rodríguez Fernández-Oliva, C R, Torres Alvarez de Arcaya, M L, Aguirre-Jaime, A

“…The right management of asthma in the school background is an important issue in order for the disease to make good progress. To find out the situation in…”
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Comparison between the meiotic activities in the male with hypogonadotropic hypogonadism and in the human fetal ovocytes by de Torres, M L, Sanchez Ferrer, M A, Abrisqueta, J A

“…In the testicles of males with postpuberal hypogonadotropic hypogonadism, we have detected a preleptotene phase similar to that described in the human ovary…”
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Balanced reciprocal translocation (X;20) limited to Wilms' tumor in a Wiedemann-Beckwith syndrome by Diaz de Bustamante, A, Delicado, A, Garcia de Miguel, P, Darnaude, M T, de Torres, M L, Zumel, R M, Lopez Pajares, I

“…A girl aged 4 years 3 months with sporadic unilateral Wilms' tumor associated with Wiedemann-Beckwith syndrome, but without aniridia, was found to have a…”
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Trisomy 20p from maternal translocation and anencephaly. Case report and genetic review by Zumel, R M, Darnaude, M T, Delicado, A, Diaz de Bustamante, A, de Torres, M L, López Pajares, I

“…This paper concerns the case of an anencephalus male fetus with partial trisomy 20p product of a maternal translocation 46,XX, t(15;20) (p11.2;p12),…”
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Study of the human male meiosis. I. G-banding in pachytene bivalents by De Torres, M L, Abrisqueta, J A

“…Results obtained from a meiotic study of 250 pachytene cells from four normal human males are presented. G-banding patterns for pachytene bivalents, obtained…”
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Study of human male meiosis. II-Q-banding in pachytene bivalents by de Torres, M L, Abrisqueta, J A

“…In continuation of the research on male human meiosis within the study of pachytene bivalents, results from the analysis of 125 cells are presented. The aim of…”
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Trisomy 10p due to a de novo t(10p;13p) by Aller, V, Abrisqueta, J A, Pérez-Castillo, A, del Mazo, J, Martín-Lucas, M A, de Torres, M L

“…A new case of trisomy 10p has been identified by means of the GTG-banding technique. The patient is a female child carrying a sporadic translocation,…”
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Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review by Lapunzina, Pablo, Gairí, Alba, Delicado, Alicia, Mori, M. Angeles, Torres, M. Luisa de, Goma, Anton, Navia, Marcelo, Pajares, Isidora López

“…We report on six additional patients with macrocephaly‐cutis marmorata telangiectatica congenita (M‐CMTC; MIM 602501) and review the literature. This syndrome…”
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An r(22)(p11 leads to q13) in a moderately mentally retarded girl by Aller, V, Abrisqueta, J A, de Torres, M L, Martín-Lucas, M A, Pérez-Castillo, A, Del Mazo, J

“…An r(22) was detected in a 6-year-old female patient with growth retardation, IQ of 45, and a lower quotient for verbal performance. She presents some other…”
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Short Report: Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome by Fernández, L, Lapunzina, P, Arjona, D, I López Pajares, García-Guereta, L, Elorza, D, Burgueros, M, ML De Torres, Mori, MA, Palomares, M, García-Alix, A, Delicado, A

“…The 22q11.2 deletion syndrome is commonly diagnosed using fluorescence in situ hybridization (FISH) with commercial probes. The chromosomal breakpoints and…”
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The 18p- syndrome. Report of five cases by Zumel, R M, Darnaude, M T, Delicado, A, Diaz de Bustamante, A, de Torres, M L, López-Pájares, I

“…Five children, three males and two females were found to have a short arm deletion of chromosome 18. Four of them display some of the typical features of this…”
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Maternal 3:1 disjunction in a translocation 9/17 by SANCHEZ FERRER, M. A, DE TORRES, M. L, ABRISQUETA, J. A

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Partial trisomy 13 due to maternal translocation t(7;13)(p22q14) by Martin-Lucas, M A, Pérez-Castillo, A, Abrisqueta, J A, de Torres, M L, Martin-Sempere, M J, Del Mazo, J, Aller, V

“…The third child of a mother with a balanced translocation (7;13) revealed a partial trisomy of chromosome 13. The cytogenetic study by conventional techniques…”
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Cri du chat syndrome and translocation t(5p--;18p+) by Abrisqueta, J A, Perez, A, Aller, V, Del Mazo, J, Goday, C, Martin, M A, De Torres, M L

“…Two new cases of "cri du chat" syndrome are reported in sisters aged 2 years and one month, respectively. These cases allowed us to detect a translocation…”
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